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A loxP site flanked stop and neomycin resistance gene cassette was inserted into the 5' UTR and a mutation was engineered in exon 2. The mutation changes glutamic acid codon 177 (GAA) to an alanine codon (GCG)(p.Glu177Ala). The neo and stop cassette was removed through subsequent cre-mediated recombination. PCR and cDNA sequencing confirm the expression of the mutated transcript from this allele. (J:241009)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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References Literature
Title
PMID
Journal
Year
IF
